Publication details
Smithův-Lemliův-Opitzův syndrom
| Title in English | Smith-Lemli-Opitz syndrome |
|---|---|
| Authors | |
| Year of publication | 2018 |
| Type | Article in Periodical |
| Magazine / Source | Pediatria |
| MU Faculty or unit | |
| Citation | |
| Web | http://www.amedi.sk |
| Keywords | Smith-Lemli-Opitz syndrome |
| Description | Smith-Lemli-Opitz’s syndrome (SLOS) is an autosomal recessive hereditary metabolic disorder caused by mutations in the DHCR7 gene. It is characterized by multiple anomalies, primarily of the brain, skeleton, genitalia, but also of the heart, gastrointestinal system, typical facial dysmorphy, and various degrees of psychomotor retardation. Typical laboratory symptom is reduced blood total cholesterol and elevated 7-dehydrocholesterol. Wide phenotypic variability complicates the diagnosis of this disability. The authors present two patients with SLOS who were diagnosed at the Department of Pediatrics of the University Hospital in Brno. |